ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1332C>T (p.Pro444=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002766708 SCV003020059 likely benign Lethal congenital glycogen storage disease of heart 2022-05-02 criteria provided, single submitter clinical testing

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